DOI: 10.1055/s-00029027

Journal of Pediatric Genetics

Issue 02 · Volume 01 · June 2012 DOI: 10.1055/s-005-29726

Editorial

069
Faith, Myles S.: Electronic medical records, genetics, and childhood obesity: A new direction for scientific discovery?

Review Article

071
Gabbett, Michael T.: The oculoauriculovertebral spectrum: Refining the estimate of birth prevalence
079
Shastry, Barkur S.: Pharmacogenomics and its importance in pediatric medicine

085
Wang, Kai; Zhang, Haitao; Mentch, Frank D.; Bradfield, Jonathan P.; Glessner, Joseph T.; Qiu, Haijun; Guo, Yiran; Hou, Cuiping; Frackelton, Edward C.; Thomas, Kelly; Bender, Amber; Albano, Anthony; Otieno, George; Garris, Maria; Seidler, Kallyn; Moy, Alexander; Kim, Cecilia E.; Keating, Brendan; Chiavacci, Rosetta M.; Grundmeier, Robert; Sleiman, Patrick A.; Grant, Struan F.A.; Hakonarson, Hakon: Examination of genetic variants influencing lipid traits in pediatric populations
099
Patitucci, Alessandra; Magariello, Angela; Ungaro, Carmine; Muglia, Maria; Conforti, Francesca L.; Gabriele, Anna L.; Citrigno, Luigi; Sproviero, William; Mazzei, Rosalucia: SMN1 gene copy number analyses for SMA healthy carriers in Italian population
103
Morgan, Angharad R.; Thompson, John M.D.; Waldie, Karen E.; Cornforth, Christine M.; Turic, Darko; Sonuga-Barke, Edmund J.S.; Lam, Wen-Jiun; Ferguson, Lynnette R.; Mitchell, Edwin A.: Initial evidence that polymorphisms in neurotransmitter-regulating genes contribute to being born small for gestational age
115
Hantash, Feras M.; Wang, Boris T.; Owen, Renius; Ross, Leslie P.; Mahon, Loretta W.; Boyar, Fatih Z.; Anguiano, Arturo; Strom, Charles M.: Inherited and de novo 22q11.2 distal duplications in two patients with autistic features, speech delay and no dysmorphology
125
Flore, Leigh Anne; Leon, Eyby; Maher, Tom A.; Milunsky, Jeff M.: RASA1 analysis guides management in a family with capillary malformation-arteriovenous malformation
131
Mimbacas, Adriana; Vitarella, Graciela; Souto, Jorge; Reyes, Ana Laura; Farias, Joaquina; Fernández, Mariana; Fabregat, Matias; Javiel, Gerardo: The phenotype masks the genotype: A possible new expression of diabetes
135
Cohen, Lilian; Samanich, Joy; Pan, Quilu; Mehta, Lakshmi; Marion, Robert: 17q12 Deletion in a patient with Williams syndrome: Case report and review of the literature
143
Eggermann, Thomas; Spengler, Sabrina; Gamerdinger, Ulrike; Denecke, Bernd; Grimm, Silke; Grimm, Manfred; Schubert, Regine; Schwanitz, Gesa: Duplication 3q13.11q23: Longitudinal study in a patient over a period of more than 7 years and refinements of the breakpoints